Libro blanco de las ACES Pediátricas 2024

Libro Blanco de las ACES Pediátricas 2024 178 ❚ 42 9 ACTH resistance/ familial glucocorticoid deficiency, (FGD) • Types, genetics, clinical presentation • Triple A / Achalasia-Adrenal insufficiency-Alacrima syndrome D 10 Adrenal crisis • Stress doses of glucocorticoids • Forward plan, sick-day rules, discharge advice and safety netting C 11 Management of children and adolescents with glucocorticoid deficiency requiring surgery 12 Hypercortisolism • Central, adrenal, ectopic 19 • Iatrogenic D C 13 Aldosterone deficiency • Pseudohypoaldosteronism types 1 and 2 • Aldosterone synthase deficiency (P450c11AS, Corticosterone methyl oxidase) C D 14 Mineralocorticoid excess • Primary hyperaldosteronism, adenoma, hyperplasia, Apparent Mineralocorticoids Excess, Glucocorticoid-suppressible Hyperaldosteronism D 15 Premature adrenarche vs pathological hyperandrogenism Glucocorticoid resistance, 11β-hydroxysteroid dehydrogenase 1 (11β HSD1) defect (apparent cortisone reductase deficiency) C D 16 Adrenal cortex tumours: • Functioning, nonfunctioning • Isolated, associated with other disorders (Li-Fraumeni, Carney, McCune Albright) C 17 Adrenal medulla tumours: pheochromocytoma 38 • Isolated or associated with other disorders (Multiple Endocrine Neoplasia 2, von Hippel-Lindau, Neurofibromatosis type 1) D 18 Glucocorticoid treatment • Preparations used, relative potency, routes of administration, actions and side effect profile • Physiological replacement, stress doses, pharmacological treatment, and withdrawal C